HSD17B4

hydroxysteroid 17-beta dehydrogenase 4

Summary

The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]

Known Variants1,003 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs34212912	5:118,788,047	G/A	—	likely benign
rs536737707	5:118,788,141	C/T	—	uncertain significance
rs11739468	5:118,788,152	C/G	—	conflicting classifications of pathogenicity
rs26180	5:118,788,196	C/A	—	uncertain significance
rs34353289	5:118,788,243	C/T	—	likely benign
rs34604765	5:118,788,244	G/C	—	likely benign
rs781758406	5:118,788,251	T/C	—	likely benign
rs372388554	5:118,788,254	C/T	—	likely benign
rs201823783	5:118,788,255	G/T	—	likely benign
rs1488399880	5:118,788,271	A/C	—	likely pathogenic
rs1085307072	5:118,788,273	G/A	—	pathogenic
rs1417491819	5:118,788,276	C/T	—	likely benign
rs142889209	5:118,788,281	C/G	—	conflicting classifications of pathogenicity
rs1754154891	5:118,788,282	G/A	—	likely benign
rs2126590496	5:118,788,283	C/T	—	likely benign
rs969042234	5:118,788,285	G/A	—	conflicting classifications of pathogenicity
rs143278360	5:118,788,291	C/G	—	uncertain significance
rs370888351	5:118,788,297	G/A	—	conflicting classifications of pathogenicity
rs1470400098	5:118,788,300	G/A	—	likely benign
rs753527768	5:118,788,303	G/T	—	likely benign
rs1561419761	5:118,788,307	C/A	—	uncertain significance
rs763266528	5:118,788,309	G/T	—	likely benign
rs2531472105	5:118,788,313	A/G	—	likely pathogenic
rs1332217802	5:118,788,314	C/T	—	uncertain significance
rs751737033	5:118,788,315	C/T	—	likely benign
rs137853096	5:118,788,316	G/A	regulatory region variant	pathogenic
rs781356187	5:118,788,318	C/A	—	likely benign
rs756529538	5:118,788,321	G/T	—	likely benign
rs2531472210	5:118,788,323	G/T	—	uncertain significance
rs769227162	5:118,788,324	G/A	—	likely benign
rs148363262	5:118,788,326	C/G	—	likely benign
rs1260517680	5:118,788,329	G/C	—	pathogenic
rs1231409834	5:118,788,335	A/G	—	likely benign
rs1460258638	5:118,788,338	C/T	—	likely benign
rs2531472432	5:118,788,342	G/A	—	likely benign
rs2531472446	5:118,788,343	G/T	—	likely benign
rs2531472459	5:118,788,344	T/A	—	likely benign
rs78611678	5:118,788,433	G/A	—	likely benign
rs565765389	5:118,788,446	G/A	—	likely benign
rs775377217	5:118,788,449	A/G	—	uncertain significance
rs762157656	5:118,788,451	G/C	—	uncertain significance
rs375453337	5:118,788,475	C/T	—	likely benign
rs2531474162	5:118,788,508	C/A	—	likely benign
rs964493746	5:118,788,513	G/A	—	uncertain significance
rs1554059562	5:118,788,517	G/C	—	likely benign
rs1001866915	5:118,788,518	T/A	—	likely pathogenic
rs1406515288	5:118,788,522	G/T	—	uncertain significance
rs574416522	5:118,788,523	C/T	—	likely benign
rs536604558	5:118,788,525	C/G	—	likely benign
rs11949545	5:118,788,606	C/G	—	benign
rs32651	5:118,791,832	G/A	—	benign
rs2678083	5:118,791,977	C/G	—	benign
rs2126610283	5:118,792,002	T/A	—	likely benign
rs1332503476	5:118,792,005	A/T	—	likely benign
rs868120508	5:118,792,006	T/C	—	likely benign
rs2531495877	5:118,792,007	T/G	—	uncertain significance
rs2531495892	5:118,792,009	G/A	—	likely pathogenic
rs760062936	5:118,792,012	T/C	—	likely benign
rs794729224	5:118,792,015	G/T	missense variant	pathogenic
rs765702241	5:118,792,018	C/T	missense variant	pathogenic
rs762613990	5:118,792,019	G/A	—	uncertain significance
rs2126610379	5:118,792,023	C/T	—	likely benign
rs2126610386	5:118,792,025	A/G	—	uncertain significance
rs2531496010	5:118,792,026	T/C	—	likely benign
rs751186437	5:118,792,027	G/T	—	uncertain significance
rs2126610419	5:118,792,029	C/T	—	likely benign
rs1754652365	5:118,792,032	G/T	—	likely benign
rs2126610452	5:118,792,035	T/G	—	likely benign
rs749165759	5:118,792,050	A/G	—	conflicting classifications of pathogenicity
rs587777442	5:118,792,052	C/T	synonymous variant	pathogenic
rs778708979	5:118,792,053	G/A	—	likely benign
rs747214551	5:118,792,060	G/A	—	conflicting classifications of pathogenicity
rs2531496314	5:118,792,064	G/A	—	likely pathogenic
rs770343200	5:118,792,071	G/A	—	conflicting classifications of pathogenicity
rs775970480	5:118,792,074	G/A	—	conflicting classifications of pathogenicity
rs763381588	5:118,792,078	T/G	—	likely benign
rs35513863	5:118,792,113	A/C	—	likely benign
rs141662342	5:118,792,265	G/A	—	likely benign
rs439954	5:118,807,136	G/A	—	benign
rs2531585580	5:118,807,338	A/C	—	uncertain significance
rs1037542179	5:118,807,343	A/G	—	likely benign
rs876657476	5:118,807,355	T/C	—	likely benign
rs541081959	5:118,807,397	T/C	—	conflicting classifications of pathogenicity
rs2531586013	5:118,807,400	T/A	—	likely benign
rs2451816	5:118,809,398	T/C	—	benign
rs77647258	5:118,809,550	C/T	—	likely benign
rs550564927	5:118,809,584	G/A	—	likely benign
rs773006867	5:118,809,585	C/T	—	likely benign
rs760349944	5:118,809,588	G/C	—	likely benign
rs753356949	5:118,809,591	T/G	—	likely benign
rs2126682408	5:118,809,594	G/A	—	likely benign
rs1306804490	5:118,809,596	A/G	—	likely benign
rs1224475289	5:118,809,602	G/T	—	likely pathogenic
rs1748302967	5:118,809,607	T/C	—	likely benign
rs34959311	5:118,809,608	G/T	—	uncertain significance
rs2126682524	5:118,809,619	G/A	—	likely benign
rs200063597	5:118,809,621	A/T	—	uncertain significance
rs765195928	5:118,809,622	C/T	—	likely benign
rs1748305362	5:118,809,631	A/C	—	likely benign
rs1580545941	5:118,809,637	T/C	—	likely benign

Showing 100 of 1,003 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.